Incidental Mutation 'R7471:Ltn1'
ID |
579222 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ltn1
|
Ensembl Gene |
ENSMUSG00000052299 |
Gene Name |
listerin E3 ubiquitin protein ligase 1 |
Synonyms |
Listerin, Zfp294, Rnf160, 4930528H02Rik |
MMRRC Submission |
045545-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7471 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
87173539-87229500 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87194787 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 1371
(S1371G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038775
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039449]
|
AlphaFold |
Q6A009 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039449
AA Change: S1371G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000038775 Gene: ENSMUSG00000052299 AA Change: S1371G
Domain | Start | End | E-Value | Type |
low complexity region
|
160 |
176 |
N/A |
INTRINSIC |
low complexity region
|
400 |
410 |
N/A |
INTRINSIC |
low complexity region
|
509 |
522 |
N/A |
INTRINSIC |
low complexity region
|
553 |
569 |
N/A |
INTRINSIC |
low complexity region
|
815 |
832 |
N/A |
INTRINSIC |
low complexity region
|
1380 |
1392 |
N/A |
INTRINSIC |
low complexity region
|
1427 |
1451 |
N/A |
INTRINSIC |
RING
|
1716 |
1762 |
1.05e-1 |
SMART |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (73/73) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Like most RING finger proteins, LTN1 functions as an E3 ubiquitin ligase (Chu et al., 2009 [PubMed 19196968]).[supplied by OMIM, Nov 2010] PHENOTYPE: Mice homozygous for a gene trap allele display embryonic lethality. Mice homozygous for a point mutation display progressive neuron degeneration and age dependent motor deficits. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
A |
11: 84,168,608 (GRCm39) |
|
probably null |
Het |
Ace |
T |
C |
11: 105,864,308 (GRCm39) |
V483A |
probably damaging |
Het |
Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
Angptl2 |
A |
T |
2: 33,133,751 (GRCm39) |
T358S |
possibly damaging |
Het |
Apoh |
C |
T |
11: 108,298,131 (GRCm39) |
P144S |
probably damaging |
Het |
Arid1a |
A |
G |
4: 133,408,355 (GRCm39) |
W1666R |
unknown |
Het |
Asap3 |
A |
G |
4: 135,960,957 (GRCm39) |
H223R |
possibly damaging |
Het |
Bcl2l12 |
A |
G |
7: 44,645,977 (GRCm39) |
S81P |
possibly damaging |
Het |
Brd10 |
A |
C |
19: 29,707,139 (GRCm39) |
|
probably null |
Het |
C8a |
A |
G |
4: 104,674,822 (GRCm39) |
S550P |
probably benign |
Het |
Cacna2d1 |
C |
G |
5: 16,139,973 (GRCm39) |
|
probably benign |
Het |
Ccdc170 |
A |
G |
10: 4,470,803 (GRCm39) |
T216A |
probably benign |
Het |
Chd7 |
A |
T |
4: 8,859,197 (GRCm39) |
K2429I |
probably damaging |
Het |
Chd8 |
T |
C |
14: 52,441,569 (GRCm39) |
N2181S |
probably benign |
Het |
Cimap1c |
C |
T |
9: 56,759,783 (GRCm39) |
|
probably null |
Het |
Clip3 |
T |
C |
7: 30,001,377 (GRCm39) |
V342A |
possibly damaging |
Het |
Cst5 |
C |
T |
2: 149,247,496 (GRCm39) |
L71F |
probably benign |
Het |
Cyp20a1 |
T |
C |
1: 60,393,799 (GRCm39) |
F139S |
probably damaging |
Het |
Dclre1b |
T |
A |
3: 103,710,430 (GRCm39) |
R494W |
probably benign |
Het |
Dicer1 |
A |
G |
12: 104,660,969 (GRCm39) |
I1695T |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,458,858 (GRCm39) |
L3760P |
probably damaging |
Het |
Dock1 |
A |
G |
7: 134,765,072 (GRCm39) |
D1688G |
possibly damaging |
Het |
Drosha |
G |
A |
15: 12,889,742 (GRCm39) |
R870Q |
probably damaging |
Het |
Dsg2 |
G |
T |
18: 20,713,675 (GRCm39) |
M215I |
probably benign |
Het |
Dst |
A |
T |
1: 34,233,651 (GRCm39) |
D3453V |
possibly damaging |
Het |
Epha10 |
A |
T |
4: 124,796,365 (GRCm39) |
Y358F |
|
Het |
Ermp1 |
A |
T |
19: 29,590,054 (GRCm39) |
M853K |
probably benign |
Het |
Hace1 |
T |
G |
10: 45,577,075 (GRCm39) |
I823S |
probably benign |
Het |
Hectd3 |
A |
T |
4: 116,853,785 (GRCm39) |
Y227F |
probably benign |
Het |
Hells |
A |
G |
19: 38,945,501 (GRCm39) |
N580S |
probably benign |
Het |
Igkv12-44 |
A |
G |
6: 69,791,718 (GRCm39) |
F82L |
probably damaging |
Het |
Inpp5d |
A |
G |
1: 87,623,122 (GRCm39) |
D405G |
probably damaging |
Het |
Itsn2 |
G |
A |
12: 4,758,198 (GRCm39) |
R1508H |
probably benign |
Het |
Limk1 |
A |
T |
5: 134,686,825 (GRCm39) |
|
probably null |
Het |
Lingo1 |
T |
A |
9: 56,528,167 (GRCm39) |
K147* |
probably null |
Het |
Mab21l1 |
A |
G |
3: 55,691,307 (GRCm39) |
D298G |
possibly damaging |
Het |
Macf1 |
A |
T |
4: 123,366,082 (GRCm39) |
V2893E |
probably benign |
Het |
Mapk8ip1 |
T |
C |
2: 92,219,489 (GRCm39) |
D114G |
probably benign |
Het |
Med15 |
A |
T |
16: 17,540,729 (GRCm39) |
W6R |
probably benign |
Het |
Mrps34 |
T |
C |
17: 25,114,431 (GRCm39) |
L97P |
probably damaging |
Het |
Myrfl |
A |
T |
10: 116,697,417 (GRCm39) |
F36I |
possibly damaging |
Het |
Nifk |
G |
A |
1: 118,260,204 (GRCm39) |
S253N |
probably damaging |
Het |
Nmnat1 |
T |
A |
4: 149,557,758 (GRCm39) |
T95S |
probably damaging |
Het |
Oasl1 |
T |
A |
5: 115,073,985 (GRCm39) |
I298N |
probably damaging |
Het |
Or51a8 |
A |
G |
7: 102,549,760 (GRCm39) |
Y62C |
probably benign |
Het |
Or56b35 |
T |
G |
7: 104,963,712 (GRCm39) |
L167R |
probably damaging |
Het |
Or8g37 |
A |
T |
9: 39,731,423 (GRCm39) |
M163L |
probably benign |
Het |
Polr2b |
C |
T |
5: 77,468,913 (GRCm39) |
R230* |
probably null |
Het |
Prkra |
T |
A |
2: 76,477,545 (GRCm39) |
E53D |
probably benign |
Het |
Rasgrp4 |
T |
A |
7: 28,845,405 (GRCm39) |
L376Q |
probably damaging |
Het |
Rwdd3 |
A |
G |
3: 120,964,961 (GRCm39) |
S65P |
probably benign |
Het |
Satb1 |
G |
A |
17: 52,090,029 (GRCm39) |
P273S |
probably damaging |
Het |
Scg3 |
T |
C |
9: 75,589,374 (GRCm39) |
E93G |
probably damaging |
Het |
Sf3a1 |
T |
C |
11: 4,117,724 (GRCm39) |
F162S |
possibly damaging |
Het |
Sorcs1 |
A |
G |
19: 50,250,701 (GRCm39) |
Y377H |
probably damaging |
Het |
Sptbn4 |
G |
A |
7: 27,108,439 (GRCm39) |
A661V |
possibly damaging |
Het |
Stk36 |
A |
G |
1: 74,673,479 (GRCm39) |
N996S |
unknown |
Het |
Tbca |
A |
T |
13: 94,968,923 (GRCm39) |
I37F |
probably damaging |
Het |
Tc2n |
A |
T |
12: 101,672,716 (GRCm39) |
V75E |
probably damaging |
Het |
Tdrkh |
A |
T |
3: 94,333,263 (GRCm39) |
S243C |
probably damaging |
Het |
Tjp1 |
T |
C |
7: 64,964,438 (GRCm39) |
D911G |
probably damaging |
Het |
Tmbim6 |
A |
G |
15: 99,299,324 (GRCm39) |
|
probably benign |
Het |
Tob1 |
T |
A |
11: 94,104,708 (GRCm39) |
D81E |
probably benign |
Het |
Ttpal |
T |
A |
2: 163,448,945 (GRCm39) |
|
probably null |
Het |
Usp37 |
A |
T |
1: 74,534,787 (GRCm39) |
|
probably null |
Het |
Vmn1r235 |
A |
G |
17: 21,482,658 (GRCm39) |
I328V |
probably benign |
Het |
Vmn1r28 |
T |
A |
6: 58,242,850 (GRCm39) |
L231* |
probably null |
Het |
Xirp1 |
G |
A |
9: 119,848,176 (GRCm39) |
Q236* |
probably null |
Het |
Zc3h7b |
A |
G |
15: 81,664,682 (GRCm39) |
T514A |
probably damaging |
Het |
Zfp524 |
A |
G |
7: 5,021,200 (GRCm39) |
I243V |
probably benign |
Het |
Zfp655 |
T |
A |
5: 145,181,542 (GRCm39) |
Y467N |
possibly damaging |
Het |
Zfp985 |
A |
T |
4: 147,667,388 (GRCm39) |
K85N |
possibly damaging |
Het |
|
Other mutations in Ltn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00328:Ltn1
|
APN |
16 |
87,215,378 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01139:Ltn1
|
APN |
16 |
87,212,897 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01359:Ltn1
|
APN |
16 |
87,202,581 (GRCm39) |
splice site |
probably benign |
|
IGL01503:Ltn1
|
APN |
16 |
87,217,695 (GRCm39) |
critical splice donor site |
probably benign |
|
IGL01529:Ltn1
|
APN |
16 |
87,178,359 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02437:Ltn1
|
APN |
16 |
87,194,889 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02658:Ltn1
|
APN |
16 |
87,212,662 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02890:Ltn1
|
APN |
16 |
87,206,185 (GRCm39) |
splice site |
probably null |
|
IGL02899:Ltn1
|
APN |
16 |
87,179,547 (GRCm39) |
missense |
probably benign |
0.34 |
IGL02902:Ltn1
|
APN |
16 |
87,176,693 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL03128:Ltn1
|
APN |
16 |
87,212,832 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03392:Ltn1
|
APN |
16 |
87,222,499 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03046:Ltn1
|
UTSW |
16 |
87,202,509 (GRCm39) |
missense |
probably benign |
0.10 |
PIT4305001:Ltn1
|
UTSW |
16 |
87,217,211 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4366001:Ltn1
|
UTSW |
16 |
87,177,728 (GRCm39) |
nonsense |
probably null |
|
R0126:Ltn1
|
UTSW |
16 |
87,222,528 (GRCm39) |
missense |
probably benign |
0.00 |
R0164:Ltn1
|
UTSW |
16 |
87,202,407 (GRCm39) |
splice site |
probably benign |
|
R0165:Ltn1
|
UTSW |
16 |
87,202,407 (GRCm39) |
splice site |
probably benign |
|
R0280:Ltn1
|
UTSW |
16 |
87,194,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R0565:Ltn1
|
UTSW |
16 |
87,212,898 (GRCm39) |
missense |
probably benign |
0.01 |
R0733:Ltn1
|
UTSW |
16 |
87,209,395 (GRCm39) |
missense |
probably benign |
0.01 |
R1034:Ltn1
|
UTSW |
16 |
87,194,025 (GRCm39) |
splice site |
probably null |
|
R1252:Ltn1
|
UTSW |
16 |
87,212,918 (GRCm39) |
missense |
probably benign |
0.00 |
R1524:Ltn1
|
UTSW |
16 |
87,178,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R1746:Ltn1
|
UTSW |
16 |
87,208,669 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1826:Ltn1
|
UTSW |
16 |
87,212,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R1831:Ltn1
|
UTSW |
16 |
87,197,034 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1839:Ltn1
|
UTSW |
16 |
87,213,152 (GRCm39) |
nonsense |
probably null |
|
R1860:Ltn1
|
UTSW |
16 |
87,213,231 (GRCm39) |
missense |
probably benign |
0.06 |
R1997:Ltn1
|
UTSW |
16 |
87,178,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R2109:Ltn1
|
UTSW |
16 |
87,212,530 (GRCm39) |
missense |
probably benign |
0.03 |
R2134:Ltn1
|
UTSW |
16 |
87,179,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R2135:Ltn1
|
UTSW |
16 |
87,179,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R2193:Ltn1
|
UTSW |
16 |
87,224,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R2307:Ltn1
|
UTSW |
16 |
87,229,312 (GRCm39) |
critical splice donor site |
probably null |
|
R2376:Ltn1
|
UTSW |
16 |
87,217,695 (GRCm39) |
critical splice donor site |
probably null |
|
R3054:Ltn1
|
UTSW |
16 |
87,200,961 (GRCm39) |
missense |
probably benign |
0.32 |
R3404:Ltn1
|
UTSW |
16 |
87,213,103 (GRCm39) |
missense |
probably damaging |
0.98 |
R3405:Ltn1
|
UTSW |
16 |
87,213,103 (GRCm39) |
missense |
probably damaging |
0.98 |
R3618:Ltn1
|
UTSW |
16 |
87,217,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R4065:Ltn1
|
UTSW |
16 |
87,213,118 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4066:Ltn1
|
UTSW |
16 |
87,213,118 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4067:Ltn1
|
UTSW |
16 |
87,213,118 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4288:Ltn1
|
UTSW |
16 |
87,194,876 (GRCm39) |
missense |
possibly damaging |
0.57 |
R4436:Ltn1
|
UTSW |
16 |
87,202,502 (GRCm39) |
missense |
probably benign |
0.17 |
R4535:Ltn1
|
UTSW |
16 |
87,223,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R4581:Ltn1
|
UTSW |
16 |
87,198,912 (GRCm39) |
critical splice donor site |
probably null |
|
R4669:Ltn1
|
UTSW |
16 |
87,215,375 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4715:Ltn1
|
UTSW |
16 |
87,215,382 (GRCm39) |
missense |
probably damaging |
0.98 |
R4830:Ltn1
|
UTSW |
16 |
87,176,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R4887:Ltn1
|
UTSW |
16 |
87,195,697 (GRCm39) |
nonsense |
probably null |
|
R4961:Ltn1
|
UTSW |
16 |
87,194,679 (GRCm39) |
missense |
probably benign |
|
R4992:Ltn1
|
UTSW |
16 |
87,202,475 (GRCm39) |
missense |
possibly damaging |
0.70 |
R5073:Ltn1
|
UTSW |
16 |
87,224,628 (GRCm39) |
missense |
probably damaging |
0.99 |
R5288:Ltn1
|
UTSW |
16 |
87,212,899 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5802:Ltn1
|
UTSW |
16 |
87,212,569 (GRCm39) |
missense |
probably benign |
0.17 |
R5907:Ltn1
|
UTSW |
16 |
87,178,391 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6180:Ltn1
|
UTSW |
16 |
87,224,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R6194:Ltn1
|
UTSW |
16 |
87,212,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R6257:Ltn1
|
UTSW |
16 |
87,208,662 (GRCm39) |
missense |
possibly damaging |
0.74 |
R6301:Ltn1
|
UTSW |
16 |
87,217,194 (GRCm39) |
missense |
probably benign |
|
R6481:Ltn1
|
UTSW |
16 |
87,175,868 (GRCm39) |
missense |
probably damaging |
1.00 |
R6525:Ltn1
|
UTSW |
16 |
87,217,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R6958:Ltn1
|
UTSW |
16 |
87,194,679 (GRCm39) |
missense |
probably benign |
|
R6969:Ltn1
|
UTSW |
16 |
87,212,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R7002:Ltn1
|
UTSW |
16 |
87,220,361 (GRCm39) |
missense |
probably benign |
|
R7038:Ltn1
|
UTSW |
16 |
87,221,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R7062:Ltn1
|
UTSW |
16 |
87,224,491 (GRCm39) |
missense |
probably damaging |
0.98 |
R7152:Ltn1
|
UTSW |
16 |
87,224,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R7180:Ltn1
|
UTSW |
16 |
87,215,382 (GRCm39) |
missense |
probably damaging |
0.98 |
R7247:Ltn1
|
UTSW |
16 |
87,206,275 (GRCm39) |
missense |
probably benign |
0.00 |
R7454:Ltn1
|
UTSW |
16 |
87,194,700 (GRCm39) |
missense |
probably benign |
0.03 |
R7511:Ltn1
|
UTSW |
16 |
87,205,716 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7691:Ltn1
|
UTSW |
16 |
87,195,574 (GRCm39) |
missense |
probably damaging |
0.99 |
R7702:Ltn1
|
UTSW |
16 |
87,223,166 (GRCm39) |
missense |
probably damaging |
1.00 |
R7761:Ltn1
|
UTSW |
16 |
87,208,681 (GRCm39) |
missense |
probably benign |
|
R8002:Ltn1
|
UTSW |
16 |
87,212,835 (GRCm39) |
missense |
probably benign |
0.17 |
R8101:Ltn1
|
UTSW |
16 |
87,215,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R8142:Ltn1
|
UTSW |
16 |
87,178,529 (GRCm39) |
missense |
probably benign |
0.21 |
R8214:Ltn1
|
UTSW |
16 |
87,177,691 (GRCm39) |
missense |
probably benign |
0.02 |
R8674:Ltn1
|
UTSW |
16 |
87,195,673 (GRCm39) |
missense |
probably benign |
|
R8783:Ltn1
|
UTSW |
16 |
87,207,247 (GRCm39) |
missense |
probably benign |
0.30 |
R8839:Ltn1
|
UTSW |
16 |
87,215,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R8885:Ltn1
|
UTSW |
16 |
87,178,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R8889:Ltn1
|
UTSW |
16 |
87,229,230 (GRCm39) |
intron |
probably benign |
|
R8892:Ltn1
|
UTSW |
16 |
87,229,230 (GRCm39) |
intron |
probably benign |
|
R8919:Ltn1
|
UTSW |
16 |
87,178,381 (GRCm39) |
missense |
probably damaging |
0.98 |
R8970:Ltn1
|
UTSW |
16 |
87,212,926 (GRCm39) |
missense |
probably benign |
|
R9113:Ltn1
|
UTSW |
16 |
87,224,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R9206:Ltn1
|
UTSW |
16 |
87,197,298 (GRCm39) |
missense |
probably benign |
0.00 |
R9208:Ltn1
|
UTSW |
16 |
87,197,298 (GRCm39) |
missense |
probably benign |
0.00 |
R9234:Ltn1
|
UTSW |
16 |
87,194,089 (GRCm39) |
missense |
probably damaging |
0.98 |
R9421:Ltn1
|
UTSW |
16 |
87,215,375 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9558:Ltn1
|
UTSW |
16 |
87,220,295 (GRCm39) |
missense |
probably benign |
0.05 |
R9654:Ltn1
|
UTSW |
16 |
87,207,227 (GRCm39) |
missense |
probably benign |
0.00 |
R9738:Ltn1
|
UTSW |
16 |
87,222,524 (GRCm39) |
missense |
probably damaging |
1.00 |
X0028:Ltn1
|
UTSW |
16 |
87,199,022 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Ltn1
|
UTSW |
16 |
87,198,925 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATGGCCAAACCTTGTCCTC -3'
(R):5'- TCAACCCATGTGTGTTCTTATGAG -3'
Sequencing Primer
(F):5'- TAATGGGATCTGATGCCCAC -3'
(R):5'- ACCCATGTGTGTTCTTATGAGTTGTG -3'
|
Posted On |
2019-10-07 |